Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk130_assertion> ?p ?o ?g. }
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- NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk130_assertion type Assertion NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk130_head.
- NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk130_assertion description "[Phenotypic divergence is exemplified by different CLN8 mutations giving rise to two very different diseases, the mild CLN8 disease, EPMR (progressive epilepsy with mental retardation), and the more severe CLN8 disease, late infantile variant.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk130_provenance.
- NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk130_assertion evidence source_evidence_curated NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk130_provenance.
- NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk130_assertion SIO_000772 21990111 NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk130_provenance.
- NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk130_assertion wasDerivedFrom uniprot-2016 NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk130_provenance.
- NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk130_assertion wasGeneratedBy ECO_0000218 NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk130_provenance.